NATIONAL INSTITUTE FOR HEALTH AND CLINICAL EXCELLENCE 1 Guideline
Familial hypercholesterolaemia: the identification and management of patients
1.1 Short title 2 Background
The National Institute for Health and Clinical Excellence ('NICE' or
'the Institute') has commissioned the National Collaborating Centre
for Primary Care to develop a clinical guideline on familial
hypercholesterolaemia (FH) for use in the NHS in England and
Wales. This follows referral of the topic by the Department of
Health and Welsh Assembly Government (see appendix). The
guideline will provide recommendations for good practice that are
based on the best available evidence of clinical and cost
The Institute's clinical guidelines will support the implementation of
National Service Frameworks (NSFs) in those aspects of care
where a Framework has been published. The statements in each
NSF reflect the evidence that was used at the time the Framework
was prepared. The clinical guidelines and technology appraisals
published by the Institute after an NSF has been issued will have
NICE clinical guidelines support the role of healthcare professionals
in providing care in partnership with patients, taking account of their
individual needs and preferences, and ensuring that patients (and
their carers and families, where appropriate) can make informed
decisions about their care and treatment.
Familial hypercholesterolaemia draft scope for consultation 10 July-7 August
Clinical need for the guideline
hypercholesterolaemia is an inherited monogenic disorder
that may be either heterozygous or homozygous.
Burden of disease
The prevalence of heterozygous familial hypercholesterolaemia in
the UK population is estimated to be 1 in 500, which means that
approximately 110,000 people are affected. The elevated serum
cholesterol concentrations that characterise heterozygous FH lead
to a greater than 50% risk of coronary heart disease by the age of
50 in men and at least 30% in women aged 60.
Homozygous familial hypercholesterolaemia is rare, presents in
children and is associated with early death. Homozygous FH has
Evidence of effective interventions
Early detection and treatment with hydroxyl-methylglutaryl-
coenzyme (HMG CoA) reductase inhibitors (statins) has been
shown to reduce morbidity and mortality in those with heterozygous
FH. LDL apheresis and liver transplantation are treatment options
There is evidence that screening can be effective in identifying
people in the early stages of FH. Methods proposed include
population-wide screening and cascade screening of the relatives
Currently, diagnosis involves clinical assessment and biochemical
tests (lipid profile). DNA-based testing may play a greater role in
the identification and management of FH in future.
Familial hypercholesterolaemia draft scope for consultation 10 July-7 August
Evidence of variation in clinical practice
The current strategy of opportunistic case identification in the UK
means that most people with FH are diagnosed only after
developing established coronary heart disease. This can be
addressed by the development and implementation of screening
guideline
The guideline development process is described in detail in two
publications that are available from the NICE website (see 'Further
information'). 'The guideline development process: an overview for
stakeholders, the public and the NHS' describes how organisations
can become involved in the development of a guideline. 'The
guidelines manual' provides advice on the technical aspects of
This document is the scope. It defines exactly what this guideline
will (and will not) examine, and what the guideline developers will
consider. The scope is based on the referral from the Department
of Health and Welsh Assembly Government (see appendix).
The areas that will be addressed by the guideline are described in
4.1 Population Groups that will be covered
Adults and children with heterozygous FH.
4.1.2 Groups will not be covered
Patients with secondary hyperlipidaemia.
Patients with polygenic and combined hyperlipidaemia.
Familial hypercholesterolaemia draft scope for consultation 10 July-7 August
Patients with hypertriglyceridaemia and type III hyperproteinaemia.
4.2 Healthcare setting
Screening, diagnostic testing and the management of heterozygous
FH in adults and children in primary, secondary or tertiary care
Tertiary care for the rare condition of homozygous FH in all age
4.3 Clinical management
Methods for the identification of individuals with FH, including the
• opportunistic identification • casade screening.
Combinations of methods of diagnostic testing for familial
• clinical symptoms and signs • biochemical tests made on plasma samples • DNA-based tests.
Arrangements for patients with confirmed familial
hypercholesterolaemia, including the timing and need for genetic
Management of children with homozygous and heterozygous FH
• dietary interventions • drug therapy • apheresis.
Management of adults with homozygous and heterozygous FH,
Familial hypercholesterolaemia draft scope for consultation 10 July-7 August
• Pharmacological interventions, including drug combinations to
lower cholesterol, aggressive versus conventional therapy, and
evaluation of treatment with the following classes of drugs:
− statins − resins − fibrates − nicotinic acid − ezetimibe.
Note that guideline recommendations will normally fall within
licensed indications; exceptionally, and only where clearly
supported by evidence, use outside a licensed indication may be
recommended. The guideline will assume that prescribers will
use a drug's summary of product characteristics to inform their
− apheresis − liver transplantation (up to the point of referral).
Advice on the following ongoing lifestyle modifications for people
with FH, with cross reference to other NICE guidelines as
• diet • exercise and regular physical activity • smoking cessation.
Statin use in women of child-bearing age, with respect to the higher
The need for continuing clinical assessment and review of patients
Familial hypercholesterolaemia draft scope for consultation 10 July-7 August
The need for pre-natal diagnosis (or pre-implantation genetic
diagnosis) in those families at risk of having homozygous FH
Information and support for patients with familial
Areas that will not be covered
Techniques for liver transplantation or plasma apheresis.
Measurement and reporting of blood lipids (this is covered by the
NICE clinical guideline on cardiovascular risk assessment, see
4.4 Status 4.4.1 Scope
This is the consultation draft of the scope. The consultation period is 10 July
The guideline will incorporate the following NICE technology appraisals.
• Statins for the prevention of cardiovascular events in patients at increased
risk of developing cadiovascular disease or those with established
cardiovascular disease. NICE technology appraisal no. 94 (2006). Available
• Ezetimibe for the treatment of hypercholesterolemia. Expected date of
The following related NICE guidance will be referred to as appropriate.
• Brief interventions and referral for smoking cessation in primary care and
other settings. NICE public health intervention guidance no. 1 (2006).
Familial hypercholesterolaemia draft scope for consultation 10 July-7 August
• Hypertension: management of hypertension in adult patients in primary
care. NICE clinical guideline no. 18. (2004). Available from
• Type 1 diabetes: diagnosis and management of type 1 diabetes in children,
young people and adults. NICE clinical guideline no. 15. (2004). Available
• Type 2 diabetes: management of blood pressure and blood lipids. NICE inherited guideline H. (2002). Available from www.nice.org.uk/guidelineH
• Obesity: the prevention, identification, assessment and management of
overweight and obesity in adults and children. NICE clinical guideline.
Expected date of publication January 2007.
• MI: secondary prevention in primary and secondary care for patients
following a myocardial infarction. NICE clinical guideline. Expected date of
• Cardiovascular risk assessment: the modification of blood lipids for the
primary and secondary prevention of cardiovascular disease. NICE clinical guideline. Expected date of publication December 2007.
4.4.2 Guideline
The development of the guideline recommendations will begin in
5 Further information
Information on the guideline development process is provided in:
• 'The guideline development process: an overview for stakeholders, the
These booklets are available as PDF files from the NICE website
(www.nice.org.uk/guidelinesmanual). Information on the progress of the
guideline will also be available from the website.
Familial hypercholesterolaemia draft scope for consultation 10 July-7 August
Appendix: Referral from the Department of Health
The Department of Health and Welsh Assembly Government asked the
'To prepare a clinical guideline for the NHS in England and Wales for the
identification and management of patients suffering from familial
hypercholesterolaemia to include advice regarding the optimal approach to
case identification, cascade screening, medical management and the use of
Familial hypercholesterolaemia draft scope for consultation 10 July-7 August
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